- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: IEA. (OMIM:192700)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: IEA. (OMIM:192700)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. Frequency: 20/20. (PMID:13561707;PMID:14117628)
These phenotypes are associated with the disease venular insufficiency, systemic (OMIM:192700).